Published in Nature on August 05, 2010
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Histone H3K27ac separates active from poised enhancers and predicts developmental state. Proc Natl Acad Sci U S A (2010) 15.13
A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet (2014) 14.56
Systematic localization of common disease-associated variation in regulatory DNA. Science (2012) 14.47
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Integrative analysis of 111 reference human epigenomes. Nature (2015) 10.32
Initial impact of the sequencing of the human genome. Nature (2011) 9.18
Discovery and refinement of loci associated with lipid levels. Nat Genet (2013) 7.86
Rare and common variants: twenty arguments. Nat Rev Genet (2012) 6.67
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter. Nature (2011) 6.48
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Patterns of cis regulatory variation in diverse human populations. PLoS Genet (2012) 5.28
A TALEN genome-editing system for generating human stem cell-based disease models. Cell Stem Cell (2012) 4.49
Progress and promise of genome-wide association studies for human complex trait genetics. Genetics (2010) 3.81
Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet (2011) 3.73
Chromatin marks identify critical cell types for fine mapping complex trait variants. Nat Genet (2012) 3.67
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet (2011) 3.56
SIRT3 deficiency and mitochondrial protein hyperacetylation accelerate the development of the metabolic syndrome. Mol Cell (2011) 3.33
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants. Proc Natl Acad Sci U S A (2013) 2.93
Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet (2011) 2.68
Beyond GWASs: illuminating the dark road from association to function. Am J Hum Genet (2013) 2.67
Integrative eQTL-based analyses reveal the biology of breast cancer risk loci. Cell (2013) 2.56
The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery. Genet Epidemiol (2011) 2.54
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53
Bayesian method to predict individual SNP genotypes from gene expression data. Nat Genet (2012) 2.50
Functional annotation of noncoding sequence variants. Nat Methods (2014) 2.41
Genetic Variation Determines PPARγ Function and Anti-diabetic Drug Response In Vivo. Cell (2015) 2.31
Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet (2012) 2.29
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. Lancet Respir Med (2014) 2.28
Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. Am J Hum Genet (2011) 2.22
Thirty-five common variants for coronary artery disease: the fruits of much collaborative labour. Hum Mol Genet (2011) 2.21
Lung eQTLs to help reveal the molecular underpinnings of asthma. PLoS Genet (2012) 2.09
Systems genetics approaches to understand complex traits. Nat Rev Genet (2013) 1.97
Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. Circulation (2011) 1.96
Genetics of human cardiovascular disease. Cell (2012) 1.90
Integrative approaches for large-scale transcriptome-wide association studies. Nat Genet (2016) 1.90
Enhancer RNAs and regulated transcriptional programs. Trends Biochem Sci (2014) 1.85
A comparative analysis of exome capture. Genome Biol (2011) 1.78
Widespread site-dependent buffering of human regulatory polymorphism. PLoS Genet (2012) 1.72
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism. J Clin Invest (2012) 1.71
Evaluation of the metabochip genotyping array in African Americans and implications for fine mapping of GWAS-identified loci: the PAGE study. PLoS One (2012) 1.65
Metabolomic profiling for the identification of novel biomarkers and mechanisms related to common cardiovascular diseases: form and function. Circulation (2012) 1.64
A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. Circ Cardiovasc Genet (2011) 1.63
Depletion of FOXP3+ regulatory T cells promotes hypercholesterolemia and atherosclerosis. J Clin Invest (2013) 1.61
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res (2010) 1.58
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet (2013) 1.57
The genetics and neuropathology of Alzheimer's disease. Acta Neuropathol (2012) 1.56
Association of a genetic risk score with prevalent and incident myocardial infarction in subjects undergoing coronary angiography. Circ Cardiovasc Genet (2012) 1.54
Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries. Arterioscler Thromb Vasc Biol (2015) 1.54
Transcriptional enhancers in development and disease. Genome Biol (2012) 1.52
Genetic Architecture of Atherosclerosis in Mice: A Systems Genetics Analysis of Common Inbred Strains. PLoS Genet (2015) 1.52
A method to predict the impact of regulatory variants from DNA sequence. Nat Genet (2015) 1.51
Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism. Genome Res (2011) 1.50
TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. Proc Natl Acad Sci U S A (2014) 1.49
Enhancers: five essential questions. Nat Rev Genet (2013) 1.46
Mechanosensitive PPAP2B Regulates Endothelial Responses to Atherorelevant Hemodynamic Forces. Circ Res (2015) 1.45
Blood pressure loci identified with a gene-centric array. Am J Hum Genet (2011) 1.44
Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. J Biol Chem (2012) 1.43
Identification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIP. Hum Mol Genet (2011) 1.42
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet (2010) 1.42
Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits. PLoS Genet (2011) 1.41
The power of meta-analysis in genome-wide association studies. Annu Rev Genomics Hum Genet (2013) 1.40
EpiExplorer: live exploration and global analysis of large epigenomic datasets. Genome Biol (2012) 1.40
Mapping rare and common causal alleles for complex human diseases. Cell (2011) 1.38
Blood pressure-associated polymorphism controls ARHGAP42 expression via serum response factor DNA binding. J Clin Invest (2017) 1.38
Integrative modeling of eQTLs and cis-regulatory elements suggests mechanisms underlying cell type specificity of eQTLs. PLoS Genet (2013) 1.34
Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet (2012) 1.34
Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis. Proc Natl Acad Sci U S A (2012) 1.34
Inferring causality and functional significance of human coding DNA variants. Hum Mol Genet (2012) 1.31
Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer. Hum Mol Genet (2012) 1.31
Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res (2011) 1.31
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene. Hum Mol Genet (2011) 1.29
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Nat Commun (2014) 1.28
Activation of ER stress and mTORC1 suppresses hepatic sortilin-1 levels in obese mice. J Clin Invest (2012) 1.28
A role for noncoding variation in schizophrenia. Cell Rep (2014) 1.26
Nonalcoholic Fatty liver disease: focus on lipoprotein and lipid deregulation. J Lipids (2011) 1.23
Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes Dev (2012) 1.23
Genetic background of patients from a university medical center in Manhattan: implications for personalized medicine. PLoS One (2011) 1.21
GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications. Nucleic Acids Res (2013) 1.18
Changes in lipoprotein subfraction concentration and composition in healthy individuals treated with the CETP inhibitor anacetrapib. J Lipid Res (2011) 1.18
cis-Expression QTL analysis of established colorectal cancer risk variants in colon tumors and adjacent normal tissue. PLoS One (2012) 1.14
Partitioning the heart: mechanisms of cardiac septation and valve development. Development (2012) 1.13
Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci. Am J Hum Genet (2015) 1.13
Sortilin and lipoprotein metabolism: making sense out of complexity. Curr Opin Lipidol (2014) 1.13
Identifying functional single nucleotide polymorphisms in the human CArGome. Physiol Genomics (2011) 1.11
A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm. Hum Mol Genet (2013) 1.10
Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci. Genome Res (2013) 1.10
Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. Trends Genet (2014) 1.10
Strategies to discover regulatory circuits of the mammalian immune system. Nat Rev Immunol (2011) 1.10
A systems view of genetics in chronic kidney disease. Kidney Int (2011) 1.09
Genetic variants at newly identified lipid loci are associated with coronary heart disease in a Chinese Han population. PLoS One (2011) 1.09
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell (2016) 1.09
Prediction of Causal Candidate Genes in Coronary Artery Disease Loci. Arterioscler Thromb Vasc Biol (2015) 1.08
Finding genes and variants for lipid levels after genome-wide association analysis. Curr Opin Lipidol (2012) 1.08
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A (2012) 1.07
Distilling pathophysiology from complex disease genetics. Cell (2013) 1.07
Functional interpretation of non-coding sequence variation: concepts and challenges. Bioessays (2013) 1.06
Macrophage sortilin promotes LDL uptake, foam cell formation, and atherosclerosis. Circ Res (2015) 1.06
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs. Nature (2004) 12.75
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet (2008) 12.07
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet (2008) 7.33
A combinatorial library of lipid-like materials for delivery of RNAi therapeutics. Nat Biotechnol (2008) 6.81
Highly efficient generation of human hepatocyte-like cells from induced pluripotent stem cells. Hepatology (2010) 6.40
Sortilin is essential for proNGF-induced neuronal cell death. Nature (2004) 5.62
Therapeutic RNAi targeting PCSK9 acutely lowers plasma cholesterol in rodents and LDL cholesterol in nonhuman primates. Proc Natl Acad Sci U S A (2008) 4.57
Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest (2003) 4.42
A dominant-negative inhibitor of CREB reveals that it is a general mediator of stimulus-dependent transcription of c-fos. Mol Cell Biol (1998) 4.26
Lipid treatment assessment project 2: a multinational survey to evaluate the proportion of patients achieving low-density lipoprotein cholesterol goals. Circulation (2009) 3.98
Metabolic origins and clinical significance of LDL heterogeneity. J Lipid Res (2002) 3.23
The sortilin cytoplasmic tail conveys Golgi-endosome transport and binds the VHS domain of the GGA2 sorting protein. EMBO J (2001) 3.13
Sortilin is essential and sufficient for the formation of Glut4 storage vesicles in 3T3-L1 adipocytes. Dev Cell (2005) 2.88
Heart attacks: gone with the century? Science (1996) 2.74
Molecular identification of a novel candidate sorting receptor purified from human brain by receptor-associated protein affinity chromatography. J Biol Chem (1997) 2.69
DNA binding specificity of the CCAAT/enhancer-binding protein transcription factor family. J Biol Chem (1996) 2.38
Expression of cholesteryl ester transfer protein in mice promotes macrophage reverse cholesterol transport. Circulation (2007) 1.93
Ion mobility analysis of lipoprotein subfractions identifies three independent axes of cardiovascular risk. Arterioscler Thromb Vasc Biol (2009) 1.83
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease. Atherosclerosis (2009) 1.80
Structural basis for DNA recognition by the basic region leucine zipper transcription factor CCAAT/enhancer-binding protein alpha. J Biol Chem (2003) 1.79
Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III. Circ Cardiovasc Genet (2009) 1.58
C/EBP alpha: a critical regulator of genes governing integrative metabolic processes. Curr Opin Genet Dev (1995) 1.51
Design of a C/EBP-specific, dominant-negative bZIP protein with both inhibitory and gain-of-function properties. J Biol Chem (1996) 1.51
Complete prevention of atherosclerosis in apoE-deficient mice by hepatic human apoE gene transfer with adeno-associated virus serotypes 7 and 8. Arterioscler Thromb Vasc Biol (2006) 1.45
Reversal of small, dense LDL subclass phenotype by normalization of adiposity. Obesity (Silver Spring) (2009) 1.28
The inactivation of the sortilin gene leads to a partial disruption of prosaposin trafficking to the lysosomes. Exp Cell Res (2009) 1.26
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
Diagnosis and management of the metabolic syndrome: an American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement. Circulation (2005) 43.74
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Genetics of gene expression and its effect on disease. Nature (2008) 21.35
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Intensive versus moderate lipid lowering with statins after acute coronary syndromes. N Engl J Med (2004) 19.42
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet (2006) 19.03
A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science (2007) 18.96
Disease-specific induced pluripotent stem cells. Cell (2008) 16.95
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science (2003) 16.80
Identification and characterization of transmitted and early founder virus envelopes in primary HIV-1 infection. Proc Natl Acad Sci U S A (2008) 16.54
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA. Cell Stem Cell (2010) 14.18
Cholesterol efflux capacity, high-density lipoprotein function, and atherosclerosis. N Engl J Med (2011) 13.55
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet (2007) 13.28
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs. Nature (2004) 12.75
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet (2007) 12.65
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Metabolite profiles and the risk of developing diabetes. Nat Med (2011) 12.22
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Variations in DNA elucidate molecular networks that cause disease. Nature (2008) 12.04
Genomewide analysis of PRC1 and PRC2 occupancy identifies two classes of bivalent domains. PLoS Genet (2008) 11.17
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
MicroRNA-21 contributes to myocardial disease by stimulating MAP kinase signalling in fibroblasts. Nature (2008) 10.73
The origin of the Haitian cholera outbreak strain. N Engl J Med (2010) 9.85
Polymorphisms associated with cholesterol and risk of cardiovascular events. N Engl J Med (2008) 9.83
Lean, but not obese, fat is enriched for a unique population of regulatory T cells that affect metabolic parameters. Nat Med (2009) 9.71
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Intestinal microbiota metabolism of L-carnitine, a nutrient in red meat, promotes atherosclerosis. Nat Med (2013) 9.44
Origins of the E. coli strain causing an outbreak of hemolytic-uremic syndrome in Germany. N Engl J Med (2011) 9.37
The Collaborative Cross, a community resource for the genetic analysis of complex traits. Nat Genet (2004) 9.37
Testing for an unusual distribution of rare variants. PLoS Genet (2011) 9.28
A randomized trial of a low-carbohydrate diet for obesity. N Engl J Med (2003) 9.23
The long-term effect of lifestyle interventions to prevent diabetes in the China Da Qing Diabetes Prevention Study: a 20-year follow-up study. Lancet (2008) 9.03
Comment on " 'Stemness': transcriptional profiling of embryonic and adult stem cells" and "a stem cell molecular signature". Science (2003) 8.79
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet (2009) 8.39
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
RNAi-mediated gene silencing in non-human primates. Nature (2006) 7.60
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Consuming fructose-sweetened, not glucose-sweetened, beverages increases visceral adiposity and lipids and decreases insulin sensitivity in overweight/obese humans. J Clin Invest (2009) 7.09
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet (2010) 7.08
PDB2PQR: expanding and upgrading automated preparation of biomolecular structures for molecular simulations. Nucleic Acids Res (2007) 7.07
Selective killing of cancer cells by a small molecule targeting the stress response to ROS. Nature (2011) 7.03
Genetic identity, biological phenotype, and evolutionary pathways of transmitted/founder viruses in acute and early HIV-1 infection. J Exp Med (2009) 7.01
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet (2009) 6.83